Hereditary alpha-tryptasemia demonstrates relative basophil enrichment without signs of cellular hyperreactivity.
Hereditary alpha-tryptasemia (HαT) is an autosomal dominant trait caused by increased tryptase alpha/beta 1 (TPSAB1) copy number, resulting in elevated serum tryptase levels. Although often asymptomatic, HαT is associated with anaphylaxis, flushing, and connective tissue abnormalities. A…
NF‑κB signaling drives Th17‑mediated lacrimal gland injury and tear dysfunction in a murine model of primary Sjögren's syndrome.
Primary Sjögren's syndrome (pSS) is a systemic autoimmune disorder characterized by chronic inflammation of exocrine glands, resulting in lacrimal gland dysfunction, reduced tear secretion and dry eye manifestations. The nuclear factor κB (NF‑κB) signaling pathway is a centra…
Assessing real-world natural history of indolent systemic mastocytosis: A retrospective matched cohort study.
Indolent systemic mastocytosis (ISM) is the most common form of systemic mastocytosis, accounting for more than 80% of cases. Patients with ISM experience severe, unpredictable symptoms, including potentially life-threatening anaphylaxis. As a chronic condition, understanding its longitudinal natura…
Genetic contributions to systemic autoimmunity are often considered more significant in children than in adults. As such, genetic evaluation may be more frequently pursued in pediatric rheumatology patients. Motivated by the discovery of a STING-associated vasculopathy with onset in infancy (SAVI) m…
Haploinsufficiency of A20 (HA20) is a primary immune regulation disease caused by heterozygous loss-of-function variants in TNFAIP3, resulting in unchecked inflammatory signaling. HA20 is a highly heterogeneous disorder with overlapping features of autoinflammation, autoimmunity, immunodeficiency, a…
Myeloid neoplasms with mutated KIT: comparative clinicopathologic analysis of D816 vs. non-D816 variants.
KIT mutations are recurrent genetic alterations in myeloid neoplasms (MNs), with the D816 hot-spot variant recognized as a poor prognostic marker in acute myeloid leukemia (AML) with RUNX1::RUNX1T1 and as a diagnostic criterion for systemic mastocytosis (SM). In contrast, the clinical and biological…
Beyond galactose-deficient IgA1: reconsidering IgA2 as a pathogenic driver in IgA nephropathy.
IgA nephropathy (IgAN) has long been viewed as a disease driven almost exclusively by IgA1, in particular galactose-deficient IgA1. However, emerging evidence challenges this IgA1-centric paradigm. In this issue of Kidney International, Li et al. demonstrate that IgA2 is consistently deposited in Ig…
Apoptosis Inhibitor of Macrophage and Acute Inflammation in IgA Nephropathy.
IgA nephropathy is characterized by mesangial deposits of IgA1-containing immune complex with complement 3 (C3). Our previous study demonstrated that apoptosis inhibitor of macrophage (AIM) plays a critical role in in situ IgA-containing immune complex formation and subsequent complement activation…